Canonical Allele Identifier: CA640359040

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 988742
• ClinVar RCV Id: RCV001270406 ; RCV002265020
• dbSNP Id: rs1462066038
• gnomAD v2: 22-51160143-TGAG-T
• gnomAD v3: 22-50721715-TGAG-T
• gnomAD v4: 22-50721715-TGAG-T
• MyVariant Identifiers: chr22:g.51160144_51160146del (hg19) ; chr22:g.50721716_50721718del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721719_50721721del , CM000684.2:g.50721719_50721721del	GRCh38
NC_000022.10:g.51160147_51160149del , CM000684.1:g.51160147_51160149del	GRCh37
NC_000022.9:g.49507013_49507015del	NCBI36
NG_008607.2:g.52365_52367del
NG_070230.1:g.57503_57505del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3487_3489del	ENSP00000489147.2:p.Glu1163del
ENST00000414786.7:n.4071_4073del
ENST00000445220.7:c.2539_2541del	ENSP00000489407.2:p.Glu847del
ENST00000664402.2:c.2029_2031del	ENSP00000499475.1:p.Glu677del
ENST00000673971.2:c.*2485_*2487del	ENSP00000501192.1:n.*2485_*2487del
ENST00000445220.6:c.2539_2541del	ENSP00000489407.2:p.Glu847del
ENST00000262795.6:c.3487_3489del	ENSP00000489147.2:p.Glu1163del
ENST00000664402.1:c.2029_2031del	ENSP00000499475.1:p.Glu677del
ENST00000673971.1:c.*2485_*2487del	ENSP00000501192.1:n.*2485_*2487del
ENST00000262795.5:c.3883_3885del	ENSP00000489147.1:p.Glu1295del
ENST00000414786.6:n.4071_4073del
ENST00000445220.5:c.3865_3867del	ENSP00000489407.1:p.Glu1289del